R7R (p.Arg7Arg) variant of DSG1 (Desmoglein-1)
R7R (p.Arg7Arg) in DSG1 (Desmoglein-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R7R (p.Arg7Arg) variant details
- p.Arg7Arg
- gnomAD 18-31318319-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 6.87
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available